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Eosinophilic esophagitis (EoE) is a severe, often painful food allergy that is reported to strike 1 in 10,000 people, but may affect many more. CHOP Research investigators Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics, and Jonathan Spergel, MD, director of the Center for Pediatric Eosinophilic Disorders conducted the first genome-wide association study on EoE. In collaboration with Marc Rothenberg, MD, PhD, director of the Center for Eosinophilic Disorders at the Cincinnati Children's Hospital Medical Center, the study team found EoE was linked to a region of chromosome 5 that contains the TSLP gene.

While two genes are located in the chromosome region identified in the genetic studies, TSLP is the plausible candidate because TSLP has higher activity levels in children with EoE compared to healthy subjects and has been previously linked to allergic inflammatory diseases such as asthma and the skin inflammation atopic dermatitis. Additionally, TSLP has a biological role in allergic inflammation. It holds the genetic code to produce a cytokine, a specific signaling protein that regulates inflammatory responses occurring in allergic diseases.

Published in Nature Genetics, this finding has elucidated a genetic pathway for EoE, which may pave the way for research that intervenes in the pathway and may eventually lead to a new treatment. Study funding was provided by the NIH, the Food Allergy Project, the Campaign Urging Research for Eosinophilic Disorders Foundation, the American Partnership for Eosinophilic Disorders, the Chair’s Institute at CHOP, the Buckeye Foundation, and the Cotswold Foundation.